Canonical Allele Identifier: CA1648174

Gene: TTC7A STPG4

Linked Data

• ClinVar Variation Id: 626203
• ClinVar RCV Id: RCV000768359 ; RCV003224465 ; RCV003908078 ; RCV003243295
• dbSNP Id: rs151032299
• ExAC: 2:47300969 G / C
• gnomAD v2: 2-47300969-G-C
• gnomAD v3: 2-47073830-G-C
• gnomAD v4: 2-47073830-G-C
• MyVariant Identifiers: chr2:g.47300969G>C (hg19) ; chr2:g.47073830G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073830G>C , CM000664.2:g.47073830G>C	GRCh38
NC_000002.11:g.47300969G>C , CM000664.1:g.47300969G>C	GRCh37
NC_000002.10:g.47154473G>C	NCBI36
NG_034143.1:g.162702G>C
NG_034143.2:g.162702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4317G>C (TTC7A)
ENST00000698503.1:n.2490G>C (TTC7A)
ENST00000319190.11:c.2484G>C (TTC7A) MANE Select	ENSP00000316699.5:p.Gln828His
ENST00000651101.1:n.1082G>C (TTC7A)
ENST00000651415.1:n.1275G>C (TTC7A)
ENST00000652236.1:n.1185G>C (TTC7A)
ENST00000652568.1:n.1157G>C (TTC7A)
ENST00000319190.9:c.2484G>C (TTC7A)	ENSP00000316699.5:p.Gln828His
ENST00000394850.6:c.2556G>C (TTC7A)	ENSP00000378320.2:p.Gln852His
ENST00000409245.5:c.2382G>C (TTC7A)	ENSP00000386307.1:p.Gln794His
ENST00000409825.5:c.2432G>C (TTC7A)
ENST00000422269.1:c.787-7693C>G
ENST00000441914.5:c.2325G>C (TTC7A)
ENST00000464527.2:n.399-7693C>G (STPG4)
ENST00000482548.1:n.402-5274C>G (STPG4)
ENST00000484061.5:n.1591G>C (TTC7A)
ENST00000491786.5:n.1888G>C (TTC7A)
ENST00000496939.1:n.416-26911C>G (STPG4)
NM_001288951.1:c.2556G>C (TTC7A)	NP_001275880.1:p.Gln852His
NM_001288953.1:c.2382G>C (TTC7A)	NP_001275882.1:p.Gln794His
NM_001288955.1:c.1422G>C (TTC7A)	NP_001275884.1:p.Gln474His
NM_020458.3:c.2484G>C (TTC7A)	NP_065191.2:p.Gln828His
XM_005264439.2:c.2127G>C (TTC7A)	XP_005264496.1:p.Gln709His
XM_011532998.1:c.2127G>C (TTC7A)	XP_011531300.1:p.Gln709His
XM_011533000.1:c.1704G>C (TTC7A)	XP_011531302.1:p.Gln568His
XM_011533001.1:c.1437G>C (TTC7A)	XP_011531303.1:p.Gln479His
XM_005264439.4:c.2127G>C (TTC7A)	XP_005264496.1:p.Gln709His
XM_011532998.3:c.2127G>C (TTC7A)	XP_011531300.1:p.Gln709His
XM_011533000.3:c.1704G>C (TTC7A)	XP_011531302.1:p.Gln568His
XM_011533001.3:c.1437G>C (TTC7A)	XP_011531303.1:p.Gln479His
XM_017004524.1:c.2367G>C (TTC7A)	XP_016860013.1:p.Gln789His
XM_017004525.1:c.2316G>C (TTC7A)	XP_016860014.1:p.Gln772His
XM_017004526.1:c.2235G>C (TTC7A)	XP_016860015.1:p.Gln745His
XM_024453013.1:c.1449G>C (TTC7A)	XP_024308781.1:p.Gln483His
NM_020458.4:c.2484G>C (TTC7A) MANE Select	NP_065191.2:p.Gln828His
NM_001288951.2:c.2556G>C (TTC7A)	NP_001275880.1:p.Gln852His
NM_001288953.2:c.2382G>C (TTC7A)	NP_001275882.1:p.Gln794His
NM_001288955.2:c.1422G>C (TTC7A)	NP_001275884.1:p.Gln474His